GNB3 wt Allele

Preferred Label : GNB3 wt Allele;

NCIt synonyms : GBB3; CSNB1H; Guanine Nucleotide-Binding Protein, Beta-3 Gene; Guanine Nucleotide-Binding Protein, Beta 3 Gene; Guanine Nucleotide Binding Protein (G Protein), Beta Polypeptide 3 Gene; G Protein Subunit Beta 3 wt Allele;

NCIt definition : Human GNB3 wild-type allele is located in the vicinity of 12p13 and is approximately 7 kb in length. This allele, which encodes guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta 3 protein, plays a role in the modulation of G-protein signal transduction.;

GenBank Accession Number : NM_002075;

Details

Origin ID

C52674;

UMLS CUI

C1708136;

Automatic exact mappings (from CISMeF team)
- Night blindness, congenital stationary, type 1h [OMIM Phenotype]
OMIM relation
- Guanine nucleotide-binding protein, beta-3 [OMIM gene]
See also inter- (CISMeF)
- congenital stationary night blindness 1H [DO Concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_associated_with_disease
- Hypertension [NCIt concept]
- Obesity [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 12: 6819636-6826818 [NCIt concept]
gene_in_chromosomal_location
- 12p13 [NCIt concept]
gene_is_element_in_pathway
- Chemokine Signaling Pathway [NCIt concept]
- Taste Transduction Pathway [NCIt concept]
gene_plays_role_in_process
- Environment-to-Cell Communication [NCIt concept]
- G Protein-Coupled Receptor Signaling [NCIt concept]
- GTP Binding [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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